Canonical Allele Identifier: CA6079729
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs757162212
ExAC: 11:64519086 C / G
gnomAD v2: 11-64519086-C-G
gnomAD v3: 11-64751614-C-G
gnomAD v4: 11-64751614-C-G
MyVariant Identifiers: chr11:g.64519086C>G (hg19) chr11:g.64751614C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751614C>G , CM000673.2:g.64751614C>G GRCh38
NC_000011.9:g.64519086C>G , CM000673.1:g.64519086C>G GRCh37
NC_000011.8:g.64275662C>G NCBI36
NG_013018.1:g.14102G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1810G>C MANE Select ENSP00000164139.3:p.Val604Leu
ENST00000164139.3:c.1810G>C ENSP00000164139.3:p.Val604Leu
ENST00000377432.7:c.1546G>C ENSP00000366650.3:p.Val516Leu
ENST00000462303.1:n.134G>C
NM_001164716.1:c.1546G>C NP_001158188.1:p.Val516Leu
NM_005609.2:c.1810G>C NP_005600.1:p.Val604Leu
NM_005609.3:c.1810G>C NP_005600.1:p.Val604Leu
NM_005609.4:c.1810G>C MANE Select NP_005600.1:p.Val604Leu
Search 100 bp 5'
Search 100 bp 3'